Flash of life: Jonathan Rothberg holding one of the silicon wafers from which his DNA-decoding chips are cut.
The machine that could change your life is a compact device, only 24 inches wide, 20 inches deep and 21 inches high. At a glance you might mistake it for a Playskool toy--or, better yet, the Apple II computer, which sparked a revolution. Indeed, this gizmo, developed in a drab office park overlooking a duck pond in Guilford, Conn., could have as dramatic an impact as any technology since the personal computer and help kick off a market that one day could be worth perhaps as much as $100 billion.
Take a closer look. On the right side is an 8-inch touchscreen, on the left a dock that allows data to be downloaded to an iPhone. Below that is a row of four test tubes, marked with a circle, an X, a square and a plus sign. These symbols represent the four basic chemical letters, or bases, the body uses to form DNA--guanine, cytosine, adenine and thymine.
Audaciously named the Personal Genome Machine (PGM), the silicon-based device is the smallest and cheapest DNA decoder ever to hit the market. It can read 10 million letters of genetic code, with a high degree of accuracy, in just two hours. Unlike existing DNA scanners the size of mainframes and servers, it fits on a tabletop and sells for only $50,000, one-tenth the price of machines already out there. For the first time every scientist, local hospital and college will be able to afford one. If the PGM takes off and regulators let him, your family doctor could buy one--and so could you, if, say, you wanted to see how fast that thing growing in your fridge is mutating.
Invented by engineer and entrepreneur Jonathan Rothberg, such desktop gene machines could transform medicine, agriculture, nanotechnology and the search for alternative fuels. Using DNA sequencing, Rothberg says, doctors in the not-too-distant future will finger genetic weak spots in tumors and treat cancer patients with customized drugs. (This is already happening at some cancer centers.) Kids born with rare diseases will get large portions of their genome decoded to pinpoint the cause, eliminating guesswork and misdiagnoses.
Outside the lab, rescue workers in the Third World might use portable gene machines to trace bacteria or viruses causing waterborne epidemics. Airport officials could take genetic samples from travelers to track infectious bacteria and viruses before they become outbreaks. Engineers can use DNA readers to concoct designer microbes to grow future fuels. DNA sequencing will help farmers breed supercrops that grow faster, resist pests and drought and need less fertilizer. Synthetic biologists might harness bacteria to make laundry detergent, clothes, furniture, even concrete that self-heals cracks.
"Sequencing is going to affect everything," says Rothberg, 47. "This is biology's century--just [as] physics was the foundation of the last century." Citing the $100 billion medical imaging industry, he boasts, "I believe sequencing will be that big."
There's substance behind the bravado. An engineering geek with a flair for marketing, he has founded four genetics companies. His current startup, Ion Torrent, created the PGM just three years after Rothberg dreamed up the idea; a soft launch took place Dec. 14. The device has at least one big believer: Life Technologies, a $3 billion (sales) lab equipment maker, was so impressed that it bought his company for $375 million (plus milestones worth another $350 million or so) this fall, before the machine was done. "He has wonderfully romantic ideas and pulls together dream teams of people and doesn't let anyone get in his way," says Kevin Davies, who has a doctorate in molecular genetics and is author of The $1,000 Genome (Simon & Schuster, 2010).
You think you've heard this before, don't you? Genomics has certainly been overhyped--and so far failed to deliver on its promises. Many intelligent people have relegated the idea to the dusty corner shared by hopes for cold fusion, world peace and World Series rings for the Chicago Cubs. When scientists first mapped the human genome a decade ago, they bragged it would lead to cures for Alzheimer's, heart disease, schizophrenia and more. It hasn't happened. Drug approvals have gone down. The search for the genetic roots of heart disease, diabetes and other common ills has yielded surprisingly little useful information for the average person. Even 23andMe, the high-profile consumer gene-testing company cofounded by Anne Wojcicki, the wife of Google's Sergey Brin, had to lay off people last year.
The problem, Rothberg says, is that technology simply hasn't been powerful enough to decode the genetic secrets lurking behind diseases like cancer, lupus and autism. As you may or may not remember from high-school biology, there are 6 billion chemical letters that make up the DNA double helix at the center of every cell. Some of it is probably genetic gibberish; a lot of functions are waiting to be discovered. But scattered throughout that DNA are 20,000 genes, the recipe books that tell the body how to make proteins such as insulin, muscle, hemoglobin, brain tissue, bone, clotting factor--virtually everything in our bodies. A single wrong letter hidden deep inside a gene can boost the risk of colon cancer or diabetes.